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This guest post is by Susan Schober. Susan is a 4th year Ph.D. Electrical Engineering-Electrophysics student at the University of Southern California (USC) Viterbi School of Engineering and a mother to a young daughter with autism.

Eva and I

I was searching for answers to my questions. Will she ever speak? Will she have a normal life? What can I do to help? What caused this thing called autism? What about her future? I read tons of books and searched the internet for some kind of direction. I felt totally lost. Helpless. Confused. Sad. I was even embarrassed to tell people. In fact, only people I absolutely trusted knew my secret: my three-and-a-half-year-old daughter, Eva, was diagnosed with non-verbal autism.

After Eva’s first birthday, which was filled with presents, laughter, and friends, she came down with a fever that lasted for two weeks. Her words and eye contact left at this time, never to return. Her big beautiful brown eyes developed a glassed-over look. Where was the little girl with the rosy cheeks that smiled and giggled constantly? All that remained was an unresponsive child that stared at our ceiling fans or at the leaves blowing in the trees. She acquired weird habits like her love of collecting anything plastic, especially gift and credit cards. More recently, she became obsessed with computers and anything electronic.

Her current fascination is fine with me though, as I myself am a Ph.D. Student in Electrical Engineering (EE) at the University of Southern California (USC). At USC, I am completing my doctorate in Ultra-Low Power Radio Frequency/Analog Integrated Circuit Design.

The Diagnosis

One of the first challenges occurred when Eva was one and a half years old. She was referred by the Regional Center of Orange County to OCKids for a diagnosis. It was pure luck that Eva was to see Dr. Pauline Filipek, who is a specialist in autism spectrum disorders (ASD). Dr. Filipek’s nurse, Teri Book, who would eventually become a great friend, was in charge of scheduling the barrage of tests – which including blood work, EEGs, EKGs, hearing, vision, ultrasound for gastrointestinal issues, and genetics – that followed to get a more accurate picture of what was going on. The official diagnosis came in a 40-page report a few months later. I read it over and over with tears in my eyes.

Eva’s Early Start program started soon after. Her therapies included physical, speech/language, Occupational Therapy (OT), and Applied Behavioral Analysis (ABA). My mom would always joke that Eva had a full-time job as her work schedule would last 25-30 hours a week, on average. It was hard seeing her frustrated, but we stuck with the program. She slowly learned basic sign language and worked with the PECS (Picture Exchange Communication System) to organize her daily activities.

On one of her follow-up appointments with Dr. Filipek, the doctor tried to get Eva to look in her eyes. This was no easy task. However, Filipek would not give up and finally Eva gave in. Eva looked in Dr. Filipek’s eyes for a brief second, and cracked a big smile—the first smile in a year. I almost fell out of my chair. Dr. Filipek whipped around and looked me square in the eyes and said, “There IS a little girl in there wanting to get out. It is OUR job to help her.” That was all the fuel I needed to start my quest to find a way to help Eva overcome autism.

The Class

It was by chance that I met Professor Olga Solomon and found that USC had a wide variety of research interests in helping those with ASD. That chance came in September 2009 in the form of an email forwarded to the Electrical Engineering Department at USC’s Viterbi School of Engineering where I study. That email was titled: “SEMINAR: Enhancing and Accelerating the Pace of Autism Research and Treatment: The Promise of Developing Innovative Technology by Matthew Goodwin.” When I received that email, I did a double take. It was addressed to my USC account and it said the word “autism.” I thought by accident I had gotten one of my many autism related newsletters or therapist’s emails in the wrong account for some reason. But when I read it for the third time, I realized that yes, there was a scientist coming to USC to speak about integrating engineering techniques into research on autism. I thought it so strange and beautiful. I had to go.

At the end of this eye-opening seminar, Dr. Solomon announced that she would teach a class in the Spring 2010 semester titled “Innovative Technology for Autism Spectrum Disorders” funded by Autism Speaks. The course would unite the fields of engineering, occupational science, neuroscience, psychology, anthropology to give a full view of the technological advances in the world of ASD. Every week, the students would read articles about ASD science and technology, blog about the readings, and invite the authors to present their research in the class. The course was too good to be true. I believe I was the first person to sign up.

The students came from a mix of backgrounds, including engineering, computer science, and occupational therapists. I struggled with being open about the fact that I was a mom of a daughter with autism. When it was my turn, I blurted it out. This was the first time I had ever told people I did not know about Eva’s autism and it was therapeutic. This small action opened the door for me to use my engineering background coupled with the knowledge that comes with being a parent of a child with ASD. I was so happy; I was not embarrassed anymore. I was here because of my unique experience and my desire to help and to find answers and solutions.

The first few weeks were dedicated to making sure the students had a strong foothold in what ASD was and what current methods exist to aid those with autism. The first speaker was Portia Iverson and we read about her experiences raising her son with autism through an excerpt from her book “Strange Son.” I was so touched by the passage that I wrote in my blog that I was going to buy the book and finish reading it.. The class day came and I received the most touching gift: Dr. Solomon obtained a copy of the book and had Portia sign it for me personally. I read the book in two days.

Each week following the first, the class had wonderful speakers; these included my favorites: Shri Narayanan – a well known Electrical Engineer who deals with speech and signal processing techniques, Skip Rizzo – a Virtual Reality (VR) guru, and Gillian Hayes, who works in pervasive computing for ASD. After each talk, I made every effort to speak with the lecturers in order to ask questions and broaden my knowledge. Most importantly, I wanted to say “thank you” and shake their hands. I had such an overwhelming feeling that in order to solve the puzzle of autism, every approach, story, and effort was an important piece to be considered in the autism equation.

At the end of the semester we worked in teams with mixed backgrounds to develop an innovative idea to apply to the field of autism. My group’s project was to develop an interactive VR and pervasive computing program to help diagnose children with autism living in rural areas where there are not enough resources or doctors on-site to make a diagnosis. We collectively wrote a grant proposal which, if accepted and funded, could be applied to disaster areas like that of Hurricane Katrina or Haiti. Using technology such as video and wireless sensors to gather data (including heart rate, sound, and body movement), the VR system could be set up in a remote area and used by a doctor or trained therapist at another location to make an initial assessment for a child suspected of having autism. This, in turn, would allow that child to receive an accurate diagnosis, including a recommendation for therapy or medical attention as needed. Not all families are as lucky as I was to live in an area with access to top doctors, therapists, and research facilities dedicated to autism. Hopefully, with a portable system like the one proposed, costs, such as travel expenses and doctor fees, can be greatly reduced and children suspected of having ASD can receive effective treatment quickly.

Looking Forward

Now that the class is over, I can look back and confidently say I am so grateful for the experience and connections I have made though the semester. The autism technology course has opened a whole new world for me. I signed up for the class because it intrigued me for the obvious reasons. I wanted to know more about autism and what was out there that could possibly help heal my daughter. What Dr. Solomon’s course gave me was a basic, yet solid understanding of autism and a way in which I could personally contribute my engineering skills and unique background to forming innovative technologies to improve the lives of individuals with ASD. Looking forward, I would love to continue to further my research in ASD technologies using both my insight as an engineer and a mom of a child with autism.

This is a guest post by Dr. Michele Savel. Dr. Savel is a pediatric dentist practicing on Long Island, New York who has specialty dental training to work with children who have special needs. Dr. Savel worked with Autism Speaks to help create the Dental Toolkit. To learn more about Dr. Savel please visit: www.kiddsmiles.com.

Dr. Michele Savel

Working with children with special needs started at home for me, having a younger brother who is on the autism spectrum. Because of my brother, I have always had a very good understanding for the issues that children with special needs face. I began working with children who have special needs while in my residency program in dental school. It was one of the most challenging aspects of my training in becoming a pediatric dentist but also one of the most rewarding.

Most people and even some dentists assume that these children cannot be treated in a regular dental office environment and therefore unfortunately many do not get proper oral care or they are immediately sent to the operating room to have their dental work done under general anesthesia and even sometimes they are placed in restraints. Of course there are still many children with special needs who we do need to sedate but there are plenty who with the proper approach can have their dental treatment done just like any other person or child.

The most satisfying part of my practice is when I can take a child who is totally opposed to the dentist and turn them around into actually liking the experience and successfully getting through a visit. A small thing like desensitizing children to the techniques that we utilize in the office is an easy way to get the children to feel more comfortable and thereby make them more cooperative. I often allow parents to take home some dental instruments so that they can practice with their children and make them feel more comfortable. I believe that all children aim to please and if you can get them to succeed even if it is only a small task it will open doors.

Children with special needs just need some extra TLC and patience to break through their walls of trust and once you’ve gotten through it is truly a most rewarding experience.

On Saturday, April 17, CBS’ Evening News featured a segment entitled “Where America Stands on Autism.” The segment focuses on a wide range of autism research being supported in part, by Autism Speaks. Dr. Geri Dawson, Autism Speaks’ chief science officer, is interviewed as well as Joe Piven at UNC and the Henderson family, who are study participants. The story also featured a groundbreaking discovery by the Autism Genome Project, led by Dr. Hakon Hakonarson. To participate in the imaging study featured in the story please visit http://www.ibis-network.org/.Read a guest post by one of the EARLI Study’s Outreach Coordinators and watch the segment below.

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This guest post is by Simon Wallace, Ph.D., Autism Speaks’ Director of Scientific Development – Europe.

The European autism community recently came together in Luxembourg to discuss how to improve knowledge, awareness and care for individuals with autism spectrum disorders (ASD) and their families. The meeting was grandly titled “An Expert Panel on Autism” and was supported by the European Union’s Department for Health (DG SANCO), with many of the practical arrangements being made by Autism Speaks and Dr Alvaro Ramirez from the European Autism Information System project.

There was a broad representation from the European community, with stakeholders from as far east as Greece and Romania, as far west as Ireland, as north as Norway and as south as Italy. The main focus was on developing a strategic direction for the continent on public health and ASD, and so the delegates were selected to represent expertise in research, clinical services, advocacy/awareness, policy and surveillance/data collection. It is striking how diverse Europe is in terms of its social and economic levels and needs, meaning that some recommendations can be broad but they must also be tailored to the various European “contexts.”

On the first day, the group heard presentations from DG SANCO who set out their commitments to ASD and a roadmap of how that should be met. Of particular resonance was the statement that, especially in economically difficult times, there is not a need for necessarily more but for better and that partnerships are the key for the European community to make progress. There is a plan for ASD to be kept as a priority in the upcoming EU health program (running from 2013-2020), which would provide greater welfare to individuals with ASD and their families in Europe, but it was made clear that autism advocates should begin a lobbying program to ensure such a commitment.

The remainder of day one included a series of presentations and discussions to “set the context” on the current landscape of ASD across Europe; to identify where there are particular challenges and where there is an opportunity for the European community to work to its unique strengths. Some of the highlights included the need to develop platforms for research and services for adults with ASD and to consider the benefits of parent-mediated approaches to intervention for children. Also discussed was that some services available to families in Europe were neither evidence-based nor properly scrutinized.

On day two, the Expert Panel divided into small groups to discuss a European strategic plan on the areas of research, clinical services, advocacy/awareness, policy and surveillance/data collection. There were a number of recommendations from these sessions, including the need to: use special European populations in research (e.g. genetically isolated or migrant populations); train professionals using standardized protocols; write national standards in treatment and diagnosis; conduct more prevalence research to calculate a European accepted figure; produce a pan-European awareness campaign.

Autism in Europe is steeped in history with many of the parental organizations looking to soon celebrate their 40th or 50th anniversaries. One of the main challenges for the European community is how to manage the complexities surrounding the very different paths each country has taken in the way they define, manage and advocate for individuals with ASD and their families. A clear message from the meeting was that improvements can be made if the goals for the European community are set out (through a summary document of the Expert Panel being published), we are able to raise autism awareness and reduce stigma, and we can disseminate information on models of best practice. Successes are being made, with national strategies recently being published in the UK and Hungary, but our autism community in Europe has still much work to do in terms of understanding how we can play to our strengths and find solutions through partnership and information sharing.

Most attendees left the meeting feeling that they’d taken part in beginning to set a vision for autism in Europe. We will draw on the momentum and enthusiasm from Luxembourg and take that into further meetings planned in Budapest and Mallorca, with the final strategic document on autism in Europe to be presented to the EU in November.

This guest post is written by Craig M. Powell, M.D., Ph.D. Dr. Powell’s research focuses on translating findings in animal models of ASD into potential treatments. He is an Assistant Professor and laboratory director at The University of Texas Southwestern Medical Center in Dallas, Texas, as well as a practicing neurologist. He is an author of three “Autism Speaks Top 10 research findings” over the past three years, is a recipient of the Autism Young Investigator Award, and his ongoing autism research is funded by Autism Speaks, the National Institute of Mental Health, and the National Institute of Child Health and Human Development. Dr. Powell is currently editing a book on the scientific study of autism.

These are immediate reactions from parents of children living with autism spectrum disorders when I begin to explain our research. They are very valid, insightful, and important questions.

My laboratory at the University of Texas Southwestern Medical Center in Dallas, Texas, in collaboration with Luis Parada, Ph.D. at UT Southwestern and Thomas Südhof, M.D. at Stanford University, studies genetic mouse models of autism. Our primary goal is to identify how autism-linked genetic differences alter brain function, and how that in turn leads to atypical behaviors relevant to autism spectrum disorders (ASD). Once we understand the brain function differences that result from a genetic mutation, we then correct the functional problem with drugs and test the drug’s ability to reverse or “treat” the behavioral differences in the genetic mouse model of ASD.

Alterations or mutations in certain genes are known to be one cause of ASD. This means that the genetic alteration leads to behavioral differences in people with autism. This is relatively straightforward to study in humans. It is much more difficult to study what is different about brain function in children and adults with ASD.

Because mice have most of the same genes as humans, we are able to re-create in a mouse model the human genetic difference that causes some cases of ASD. The goal is not to create an autistic mouse per se, but rather to determine how the mutation leads to ASD-relevant behavioral differences in the mouse. If we simply create the autism genetic mutation in a mouse and demonstrate that the mouse has decreased social interaction or repetitive behaviors or other behavioral differences, that tells us that the mutation leads to behavioral differences. Of course, we already know that the genetic mutation causes behavioral differences in humans, so that doesn’t get us very far alone. We must then ask how the genetic mutation alters brain function, something we cannot study easily in humans. To do this, we measure neuron activity in the brains of the mice. This tells us precisely how brain function is altered by the genetic mutation. Knowing this allows us to use drugs to revert brain function back to typical function. Once these drugs are identified, we then examine the drug’s effect on the atypical behaviors in the very same mouse model to determine if the drug can revert the atypical behavior to more typical behavior. Reverting atypical behaviors into more typical behaviors is an important goal for many patients with autism and their families.

Some examples:

Our recent publication on Feb. 10, 2010 in the Journal of Neuroscience (http://www.utsouthwestern.edu/utsw/cda/dept353744/files/577306.html or http://www.ncbi.nlm.nih.gov/pubmed/20147539?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=1 ) examined mice with a deletion of the autism-linked gene neuroligin-1. These mice show repetitive behaviors, one of the core diagnostic features of autism, and learning problems, a feature sometimes associated with ASD. By examining the synaptic connections between neurons in the brains of these mice, we determined that neuronal communication at synapses involving the neurotransmitter glutamate is reduced in this model. Glutamate is the primary excitatory neurotransmitter in the brain. A drug, D-cycloserine, that enhances communication at glutamate-sensitive synapses reduced the obsessive behavior in the animals, suggesting a potential way to treat repetitive behaviors in humans. D-cylcoserine has already been used in a small pilot study in autism patients with suggestion of beneficial effects (), though further studies are warranted. We are now beginning to test other drugs under development at pharmaceutical companies that may affect this same aspect of brain function and may also treat these atypical repetitive behaviors.

In an interesting twist, similar repetitive behavioral differences were also observed in neurexin-1a mutant mice, a study published in Oct. 2009 that was identified by Autism Speaks as one of the Top Ten Research Achievements of 2009. We are now beginning to examine the specific alterations in brain function in the neurexin model and to determine if the same drugs are effective at reducing obsessive, repetitive behaviors in this model. Our hope is that by examining multiple genetic models of autism, we can find a common difference in brain function that will lead to more general treatments for patients with autism who desire such treatment. At the very least, the drugs we identify are important candidates for treating those patients with the specific genetic cause of autism under study.

We are also continuing to study a genetic model based on mutations in the neuroligin 3 gene. These mice do not have repetitive behaviors, but instead exhibit mild social interaction differences. This study was published in the journal Science in 2007 and was also identified by Autism Speaks as one of the Top 10 Autism Research Achievements of that year. Along with the laboratory of our collaborator, Dr. Südhof at Stanford, we are examining several important aspects of brain function in this model including how other genes may interact with the mutation to alter the behavioral differences, how the mutation leads to abnormal brain function, and how we might begin to treat this abnormal brain function.

Last, but not least, in close collaboration with Dr. Parada here at UT Southwestern, we have characterized a genetic model based on brain-specific deletion of the PTEN gene, a gene associated with autism in children with brain overgrowth or “macrocephaly”. Again, this publication in the journal Neuron was among a group of findings identified by Autism Speaks as a Top 10 Autism Research Event. This initial publication established this mutant mouse as a model for autism with social interaction differences, anxiety, frequent seizures, and abnormally large heads, brains, and nerve cells. Through our understanding of the brain molecules altered by this genetic mutation, we have since successfully used an FDA-approved drug to “treat” the behavioral differences, the seizures, and the brain and nerve cell structural changes. This finding was published in the Journal of Neuroscience in Feb. 2009. This drug is now being tested by other researchers in patients with Tuberous Sclerosis, a genetic disorder with an unusually high incidence of ASD.

What does the future hold for genetic autism model research? As human geneticists identify additional genes responsible for some cases of autism, we must continue to study how these mutations alter brain function in animal models. By understanding the relationship between the mutations and altered brain function, something we can only test using animal models, additional treatment targets can be identified to help children and families with autism who are interested in this approach.

This is a guest post by Alycia Halladay, Ph.D. Dr. Halladay is Autism Speaks’ Director, Research for Enivronmental Services.

The NCS, or National Children’s Study, was authorized by Congress in 2000 as part of the Children’s Health Act. This study, unprecendented in size and scope in the United States, will seek to recruit hundreds of thousands of pregnant women to ultimately enroll and follow 100,000 children from gestation through adulthood. During the course of the study, parents and children will be studied carefully, with measures of behavioral, psychosocial and medical development tracked. This includes autism and autism spectrum disorders. Recent prevalence estimates suggest that around 1,000 children born to mothers enrolled in the study will develop ASD.

The overarching goal of the study is to examine how genetic and environmental factors affect child health and development. In addition to screening for autism spectrum disorders at 18 and 24 months, the current study protocol will collect multiple measures of genetic factors and environmental exposures, including specimens from mother, father and child at multiple times during development and adolescence, examination of environmental exposures, as well as medical information and medical events. The term environment is used broadly, and the study is very comprehensive in the frequency and specificity of examinations, as well as keeping in mind the magnitude and duration of a variety of exposures (medical, chemical, behavioral, psychosocial, demographic). Autism Speaks is currently working with the NCS to create a more developed and enhanced autism screening and diagnosis protocol, and identify solutions to clinical and ethical questions. This means that the NCS will be an instrumental tool for examining the relationship between genes and the environment and their relation to developmental disorders, including autism.

Because of the comprehensive nature of the study, families are expected to contribute a great deal. However, being enrolled in the NCS also provides an opportunity to contribute to a rich database of health information. This health information will be used to make policies on a statewide and federal level, identify possible intervention and treatment strategies for those enrolled, and provide participants with in depth evaluation and long-term follow up that they might not have received elsewhere. For the study to be successful, families should be willing to participate. Recruitment has already begun, and the study looks forward to talking to families who may be eligible to join – not just from those affected by autism, but those who are not affected. That means that your friends, family and neighbors could enroll even if you do not participate!!

Please learn more about the National Children’s Study here and to find out if they are recruiting in your county, see a list of study sites and contact information here.

In honor of the anniversary of Autism Speaks’ founding on Feb 25, for the next 25 days we will be sharing stories about the many significant scientific advances that have occurred during our first five years together. Our 18th item, Unmet Medical Needs Documented for Autism Families, is from Autism Speaks’ Top 10 Autism Research Events of 2008.

In a study published in the December 2008 issue of Pediatrics, researchers surveyed families of children with special health care needs and reported significant differences between those families of children with autism spectrum disorders (ASD) and those with other special healthcare needs. Families of children with special health care needs whose children had autism reported less access to key health care and family services, along with greater financial problems and less overall satisfaction with their child’s care.

Using data collected through the National Survey of Children With Special Health Care Needs (CSHCN), researchers compared information reported on children with special health care needs that also had autism to either those that did not have autism or those that had different emotional, developmental or behavioral problems. All families in the survey responded to a series of questions regarding health care experiences, family and financial impact, as well as demographic variables and insurance coverage. The results clearly demonstrated that children with special health care needs with ASD were more likely to have problems with access to care resulting in unmet medical needs. These included difficulty receiving referrals and special health or family support services.

The magnitude of these differences was lessened when compared to children without autism who had emotional, developmental and behavioral problems; however, families of children with ASD still showed a higher increase in unmet needs for specific health care and family support services even in comparison to these families, probably because children with autism often have multiple concurrent health needs. Also, although all of the families surveyed had children with special health care needs, those with ASD were in the unique situation of needing additional income to cover the child’s medical expenses and having to provide more time at home. In fact, parents of over half of the children with special health needs with ASD reported having to stop or reduce employment because of the child’s needs. Overall, the result was greater financial burden on the families of children that had special health care needs with ASD.

This study is the first to document the unique challenges, financial burdens, and family employment consequences of ASD in the context of other children with special health care needs. While much effort is underway to identify the causes, treatments and cure for autism, this study suggests that major health care reform, including national quality improvement initiatives, is needed for children with emotional, developmental and behavioral problems, especially autism.

Did you know? To address one of the unmet medical needs of greatest concern to families, in November 2009 Autism Speaks sponsored a symposium that brought together leading physicians and researchers to address the pathophysiology, assessment, and treatment of gastrointestinal problems of children and adolescents with ASD. Over 160 individuals attended the symposium held in Washington, D.C. in partnership with the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and the American Academy of Pediatrics (AAP). Presenters discussed strategies for optimizing GI health in children with ASD including screening and assessment of GI problems, nutritional and dietary concerns, and approaches to treatment. Researchers recognized that ASD is a complex disorder that affects the whole body and GI conditions should be viewed in this context. Promising research areas include further exploration of the connection between the gut and brain, a better understanding of the microbiome of children with ASD, and the role of the immune system in GI conditions.